GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:1903320111 | Esophagus | ESCC | regulation of protein modification by small protein conjugation or removal | 181/8552 | 242/18723 | 1.80e-20 | 2.60e-18 | 181 |
GO:0045862111 | Esophagus | ESCC | positive regulation of proteolysis | 256/8552 | 372/18723 | 7.88e-20 | 9.43e-18 | 256 |
GO:0031396111 | Esophagus | ESCC | regulation of protein ubiquitination | 154/8552 | 210/18723 | 2.70e-16 | 2.04e-14 | 154 |
GO:005105215 | Esophagus | ESCC | regulation of DNA metabolic process | 232/8552 | 359/18723 | 2.40e-13 | 1.13e-11 | 232 |
GO:005105417 | Esophagus | ESCC | positive regulation of DNA metabolic process | 139/8552 | 201/18723 | 1.20e-11 | 4.33e-10 | 139 |
GO:190332216 | Esophagus | ESCC | positive regulation of protein modification by small protein conjugation or removal | 99/8552 | 138/18723 | 4.39e-10 | 1.16e-08 | 99 |
GO:2001020110 | Esophagus | ESCC | regulation of response to DNA damage stimulus | 145/8552 | 219/18723 | 5.97e-10 | 1.50e-08 | 145 |
GO:00065136 | Esophagus | ESCC | protein monoubiquitination | 53/8552 | 67/18723 | 2.11e-08 | 4.03e-07 | 53 |
GO:00435888 | Esophagus | ESCC | skin development | 163/8552 | 263/18723 | 6.48e-08 | 1.14e-06 | 163 |
GO:0061458110 | Esophagus | ESCC | reproductive system development | 247/8552 | 427/18723 | 2.24e-07 | 3.42e-06 | 247 |
GO:004860818 | Esophagus | ESCC | reproductive structure development | 245/8552 | 424/18723 | 2.82e-07 | 4.14e-06 | 245 |
GO:00063024 | Esophagus | ESCC | double-strand break repair | 152/8552 | 251/18723 | 1.33e-06 | 1.62e-05 | 152 |
GO:0048872111 | Esophagus | ESCC | homeostasis of number of cells | 163/8552 | 272/18723 | 1.40e-06 | 1.69e-05 | 163 |
GO:20010228 | Esophagus | ESCC | positive regulation of response to DNA damage stimulus | 69/8552 | 105/18723 | 2.66e-05 | 2.22e-04 | 69 |
GO:00062826 | Esophagus | ESCC | regulation of DNA repair | 82/8552 | 130/18723 | 4.65e-05 | 3.66e-04 | 82 |
GO:005067318 | Esophagus | ESCC | epithelial cell proliferation | 238/8552 | 437/18723 | 1.19e-04 | 8.20e-04 | 238 |
GO:007064612 | Esophagus | ESCC | protein modification by small protein removal | 95/8552 | 157/18723 | 1.25e-04 | 8.56e-04 | 95 |
GO:00457395 | Esophagus | ESCC | positive regulation of DNA repair | 49/8552 | 73/18723 | 1.74e-04 | 1.14e-03 | 49 |
GO:00352647 | Esophagus | ESCC | multicellular organism growth | 80/8552 | 132/18723 | 3.84e-04 | 2.22e-03 | 80 |
GO:005067817 | Esophagus | ESCC | regulation of epithelial cell proliferation | 206/8552 | 381/18723 | 5.51e-04 | 3.02e-03 | 206 |
Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
WDR48 | SNV | Missense_Mutation | | c.15N>G | p.His5Gln | p.H5Q | Q8TAF3 | protein_coding | tolerated(0.15) | benign(0.08) | TCGA-A8-A097-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Hormone Therapy | tamoxiphen | SD |
WDR48 | SNV | Missense_Mutation | rs774504800 | c.934N>G | p.Ile312Val | p.I312V | Q8TAF3 | protein_coding | tolerated(0.24) | benign(0.021) | TCGA-AO-A0J6-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | doxorubicin | SD |
WDR48 | SNV | Missense_Mutation | rs765064556 | c.2017N>T | p.Arg673Cys | p.R673C | Q8TAF3 | protein_coding | deleterious(0) | probably_damaging(0.975) | TCGA-BH-A0BC-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | SD |
WDR48 | insertion | In_Frame_Ins | novel | c.345_346insAAAAGAGGTATT | p.Thr115_His116insLysArgGlyIle | p.T115_H116insKRGI | Q8TAF3 | protein_coding | | | TCGA-AR-A0TU-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Unspecific | Doxorubicin | SD |
WDR48 | SNV | Missense_Mutation | novel | c.1529C>T | p.Pro510Leu | p.P510L | Q8TAF3 | protein_coding | deleterious(0) | probably_damaging(0.99) | TCGA-2W-A8YY-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
WDR48 | SNV | Missense_Mutation | | c.1210N>A | p.Glu404Lys | p.E404K | Q8TAF3 | protein_coding | deleterious(0.01) | possibly_damaging(0.513) | TCGA-C5-A1MH-01 | Cervix | cervical & endocervical cancer | Female | >=65 | III/IV | Chemotherapy | cisplatin | PD |
WDR48 | SNV | Missense_Mutation | | c.784N>A | p.Asp262Asn | p.D262N | Q8TAF3 | protein_coding | tolerated(0.07) | benign(0.213) | TCGA-IR-A3LL-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | cisplatin | CR |
WDR48 | SNV | Missense_Mutation | | c.83N>G | p.Tyr28Cys | p.Y28C | Q8TAF3 | protein_coding | tolerated(0.18) | benign(0.006) | TCGA-A6-6652-01 | Colorectum | colon adenocarcinoma | Male | <65 | I/II | Targeted Molecular therapy | cetuximab | SD |
WDR48 | SNV | Missense_Mutation | novel | c.1310N>G | p.Asp437Gly | p.D437G | Q8TAF3 | protein_coding | deleterious(0) | probably_damaging(0.992) | TCGA-AA-3811-01 | Colorectum | colon adenocarcinoma | Female | >=65 | III/IV | Unknown | Unknown | PD |
WDR48 | SNV | Missense_Mutation | novel | c.1503N>T | p.Gln501His | p.Q501H | Q8TAF3 | protein_coding | tolerated(0.21) | benign(0.09) | TCGA-AA-A01D-01 | Colorectum | colon adenocarcinoma | Female | <65 | III/IV | Chemotherapy | capecitabine | PD |